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NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 16, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000158586.1

Allele description [Variation Report for NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn)]

NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn)

Gene:
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_000257.4(MYH7):c.3126G>T (p.Lys1042Asn)
Other names:
p.K1042N:AAG>AAT
HGVS:
  • NC_000014.9:g.23422299C>A
  • NG_007884.1:g.18363G>T
  • NM_000257.4:c.3126G>TMANE SELECT
  • NP_000248.2:p.Lys1042Asn
  • LRG_384t1:c.3126G>T
  • LRG_384:g.18363G>T
  • NC_000014.8:g.23891508C>A
  • NM_000257.2:c.3126G>T
Protein change:
K1042N
Links:
dbSNP: rs730880766
NCBI 1000 Genomes Browser:
rs730880766
Molecular consequence:
  • NM_000257.4:c.3126G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208521GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 16, 2014) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000208521.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Lys1042Asn (AAG>AAT): c.3126 G>T in exon 25 of the MYH7 gene (NM_000257.2). A K1042N variant that is likely pathogenic was identified in the MYH7 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The K1042N variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K1042N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (R1045H, R1045C, V1044A, L1038P) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in HCM panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024